17-73482051-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482051
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482051
    reference: chr 17
allele count: 2
allele frequency: 1.767627666908242e-5
allele num: 113146
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.252G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.244G>C
  hgvsp: ENSP00000464479.1:p.Gly82Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-4264G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.274G>C
  hgvsp: ENSP00000462344.1:p.Gly92Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4732G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.244G>C
  hgvsp: ENSP00000463620.1:p.Gly82Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3296G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.28G>C
  hgvsp: ENSP00000462821.1:p.Gly10Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.417G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.244G>C
  hgvsp: ENSP00000313885.7:p.Gly82Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.274G>C
  hgvsp: ENSP00000364397.5:p.Gly92Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.461G>C
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly82Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

17-73482059-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482059
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482059
    reference: chr 17
allele count: 5
allele frequency: 4.483259508993419e-5
allele num: 111526
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.252C>T
  hgvsp: ENST00000581519.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.252C>T
  hgvsp: ENST00000314256.7:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-4256C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.252C>T
  hgvsp: ENST00000577380.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.260C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.425C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.282C>T
  hgvsp: ENST00000579707.1:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3288C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.36C>T
  hgvsp: ENST00000582186.1:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.282C>T
  hgvsp: ENST00000375248.5:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4724C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.469C>T
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys84Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

17-73482060-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482060
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482060
    reference: chr 17
allele count: 65
allele frequency: 5.781992207653579e-4
allele num: 112418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.37G>A
  hgvsp: ENSP00000462821.1:p.Gly13Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.253G>A
  hgvsp: ENSP00000463620.1:p.Gly85Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3287G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.470G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-4255G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.261G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.253G>A
  hgvsp: ENSP00000313885.7:p.Gly85Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.283G>A
  hgvsp: ENSP00000462344.1:p.Gly95Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.283G>A
  hgvsp: ENSP00000364397.5:p.Gly95Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.253G>A
  hgvsp: ENSP00000464479.1:p.Gly85Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4723G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.426G>A
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 14549
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 24260
  bin: 2.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7475
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly85Arg
num of homozygotes: 1
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

17-73482064-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482064
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482064
    reference: chr 17
allele count: 1
allele frequency: 8.96041289582624e-6
allele num: 111602
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.430G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.41G>C
  hgvsp: ENSP00000462821.1:p.Gly14Ala
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.257G>C
  hgvsp: ENSP00000464479.1:p.Gly86Ala
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.287G>C
  hgvsp: ENSP00000364397.5:p.Gly96Ala
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3283G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-4251G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.265G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4719G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.474G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.257G>C
  hgvsp: ENSP00000313885.7:p.Gly86Ala
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.257G>C
  hgvsp: ENSP00000463620.1:p.Gly86Ala
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.287G>C
  hgvsp: ENSP00000462344.1:p.Gly96Ala
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8087
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly86Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

17-73482074-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482074
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482074
    reference: chr 17
allele count: 3
allele frequency: 2.713802399001321e-5
allele num: 110546
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.297C>T
  hgvsp: ENST00000579707.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.51C>T
  hgvsp: ENST00000582186.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.440C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.267C>T
  hgvsp: ENST00000581519.1:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.267C>T
  hgvsp: ENST00000314256.7:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-4241C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.297C>T
  hgvsp: ENST00000375248.5:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4709C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.267C>T
  hgvsp: ENST00000577380.1:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3273C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.275C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.484C>T
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9620
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11038
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala89Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum

17-73482075-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482075
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482075
    reference: chr 17
allele count: 1
allele frequency: 9.067498458525262e-6
allele num: 110284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.298G>A
  hgvsp: ENSP00000364397.5:p.Gly100Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.298G>A
  hgvsp: ENSP00000462344.1:p.Gly100Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3272G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.441G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.268G>A
  hgvsp: ENSP00000464479.1:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4708G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.52G>A
  hgvsp: ENSP00000462821.1:p.Gly18Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.268G>A
  hgvsp: ENSP00000463620.1:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.276G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.485G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-4240G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.268G>A
  hgvsp: ENSP00000313885.7:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10913
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10514
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly90Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

17-73482075-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482075
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482075
    reference: chr 17
allele count: 1
allele frequency: 9.067498458525262e-6
allele num: 110284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.485G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.268G>C
  hgvsp: ENSP00000313885.7:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.52G>C
  hgvsp: ENSP00000462821.1:p.Gly18Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.298G>C
  hgvsp: ENSP00000462344.1:p.Gly100Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.268G>C
  hgvsp: ENSP00000464479.1:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.268G>C
  hgvsp: ENSP00000463620.1:p.Gly90Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-4240G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.276G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.298G>C
  hgvsp: ENSP00000364397.5:p.Gly100Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.441G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3272G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4708G>C
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10913
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly90Arg
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

17-73482079-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482079
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482079
    reference: chr 17
allele count: 1
allele frequency: 9.145449224465906e-6
allele num: 109344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.56G>C
  hgvsp: ENSP00000462821.1:p.Ser19Thr
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.272G>C
  hgvsp: ENSP00000313885.7:p.Ser91Thr
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.489G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-4236G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.272G>C
  hgvsp: ENSP00000464479.1:p.Ser91Thr
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.272G>C
  hgvsp: ENSP00000463620.1:p.Ser91Thr
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4704G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3268G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.280G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.302G>C
  hgvsp: ENSP00000364397.5:p.Ser101Thr
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.445G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.302G>C
  hgvsp: ENSP00000462344.1:p.Ser101Thr
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10016
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12720
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser91Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

17-73482083-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482083
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482083
    reference: chr 17
allele count: 1
allele frequency: 9.452153200499074e-6
allele num: 105796
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.56+4T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.280+4T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.272+4T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.302+4T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3264T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4700T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.272+4T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.302+4T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-4232T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.272+4T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.489+4T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.449T>C
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14091
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8431
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.272+4T>C
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

17-73482085-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482085
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482085
    reference: chr 17
allele count: 3
allele frequency: 3.036007043536341e-5
allele num: 98814
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.451C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3262C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.302+6C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.489+6C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.272+6C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-4230C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4698C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.56+6C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.272+6C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.272+6C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.302+6C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.280+6C>T
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8487
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15423
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.272+6C>T
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

17-73482086-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482086
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482086
    reference: chr 17
allele count: 2
allele frequency: 2.047753614285129e-5
allele num: 97668
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.56+7G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.302+7G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.302+7G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.280+7G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.489+7G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.272+7G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.272+7G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-4229G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4697G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.272+7G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3261G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.452G>A
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11012
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14042
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.272+7G>A
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-73482088-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482088
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482088
    reference: chr 17
allele count: 1
allele frequency: 1.145527859237537e-5
allele num: 87296
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-4227C>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.454C>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.272+9C>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4695C>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.272+9C>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3259C>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.489+9C>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.280+9C>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.272+9C>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.56+9C>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.302+9C>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.302+9C>G
  variant of: http://identifiers.org/hgnc/28983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13886
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-73482089-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482089
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482089
    reference: chr 17
allele count: 1
allele frequency: 1.144845903741356e-5
allele num: 87348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.56+10C>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.272+10C>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.455C>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.302+10C>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4694C>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.489+10C>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.272+10C>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.272+10C>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-4226C>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.280+10C>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.302+10C>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3258C>A
  variant of: http://identifiers.org/hgnc/28983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5945
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13871
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13476
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

17-73482091-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482091
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482091
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 78760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.272+12G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.56+12G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.489+12G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4692G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3256G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.302+12G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.272+12G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.457G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.280+12G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.272+12G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-4224G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.302+12G>A
  variant of: http://identifiers.org/hgnc/28983
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12770
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

17-73482093-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482093
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482093
    reference: chr 17
allele count: 2
allele frequency: 2.727619878893677e-5
allele num: 73324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.302+14G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.272+14G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.459G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-4222G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.489+14G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.56+14G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.280+14G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.272+14G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.272+14G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3254G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4690G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.302+14G>T
  variant of: http://identifiers.org/hgnc/28983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7019
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13003
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5977
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14399
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

17-73482096-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482096
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482096
    reference: chr 17
allele count: 2
allele frequency: 3.653101483159202e-5
allele num: 54748
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.302+17T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.272+17T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-4219T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.272+17T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.302+17T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.489+17T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.462T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4687T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.280+17T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.56+17T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.272+17T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3251T>C
  variant of: http://identifiers.org/hgnc/28983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12859
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14562
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-73482098-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482098
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482098
    reference: chr 17
allele count: 1
allele frequency: 2.957354941740108e-5
allele num: 33814
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.302+19C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3249C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.280+19C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.302+19C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.272+19C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.56+19C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.272+19C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.489+19C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.464C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.272+19C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-4217C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4685C>T
  variant of: http://identifiers.org/hgnc/28983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10957
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12812
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/17-73482102-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482102
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482102
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 22982
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4681C>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.302+23C>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.468C>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.272+23C>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-4213C>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.56+23C>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.272+23C>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.280+23C>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3245C>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.489+23C>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.272+23C>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.302+23C>A
  variant of: http://identifiers.org/hgnc/28983
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5507
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

17-73482110-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482110
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482109
    reference: chr 17
allele count: 76188
allele frequency: 7.972625102028003e-1
allele num: 95562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.478delC
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.56+33delC
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.272+33delC
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.302+33delC
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-4203delC
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.489+33delC
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.272+33delC
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4671delC
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.302+33delC
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.272+33delC
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.280+33delC
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3235delC
  variant of: http://identifiers.org/hgnc/28983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9137
  bin: 2.25e1
  variant carriers: 8776
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 570
genotype depth: GenotypeDepth
  all individuals: 9761
  bin: 7.5e0
  variant carriers: 8356
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 2.75e1
  variant carriers: 3848
genotype depth: GenotypeDepth
  all individuals: 17671
  bin: 1.25e1
  variant carriers: 15952
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 2.5e0
  variant carriers: 950
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 237
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 3.25e1
  variant carriers: 1485
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 15448
  bin: 1.75e1
  variant carriers: 14751
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
num of homozygotes: 30906
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: TC
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

17-73482113-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482113
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482113
    reference: chr 17
allele count: 8
allele frequency: 9.258187709755816e-5
allele num: 86410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4670A>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.280+34A>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.272+34A>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3234A>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.56+34A>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.479A>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-4202A>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.489+34A>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.302+34A>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.272+34A>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.302+34A>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.272+34A>G
  variant of: http://identifiers.org/hgnc/28983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23221
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11135
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12578
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

17-73482114-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482114
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482114
    reference: chr 17
allele count: 1
allele frequency: 1.155882284948101e-5
allele num: 86514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-4201G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.489+35G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.272+35G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.302+35G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.480G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.272+35G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4669G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.56+35G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.280+35G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3233G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.272+35G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.302+35G>A
  variant of: http://identifiers.org/hgnc/28983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11272
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

17-73482117-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482117
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482117
    reference: chr 17
allele count: 1
allele frequency: 1.170220235448311e-5
allele num: 85454
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.302+38G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4666G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.302+38G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-4198G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.483G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.489+38G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.56+38G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.272+38G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.272+38G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.280+38G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.272+38G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3230G>C
  variant of: http://identifiers.org/hgnc/28983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11740
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23137
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

17-73482120-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482120
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482120
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 81626
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3227C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.486C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.489+41C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-4195C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.272+41C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.56+41C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4663C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.272+41C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.302+41C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.280+41C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.272+41C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.302+41C>T
  variant of: http://identifiers.org/hgnc/28983
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14789
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21935
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

17-73482123-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482123
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482123
    reference: chr 17
allele count: 1
allele frequency: 1.224739742804654e-5
allele num: 81650
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.56+44T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.272+44T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3224T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4660T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.302+44T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.489T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.272+44T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.280+44T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.302+44T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.489+44T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.272+44T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-4192T>C
  variant of: http://identifiers.org/hgnc/28983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21797
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

17-73482325-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482325
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482325
    reference: chr 17
allele count: 12
allele frequency: 9.965287581590792e-5
allele num: 120418
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.281-46C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.303-46C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4458C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.490-46C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.691C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3022C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.57-46C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.273-46C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.273-46C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3990C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.303-46C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.273-46C>T
  variant of: http://identifiers.org/hgnc/28983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8030
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum

17-73482326-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482326
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482326
    reference: chr 17
allele count: 2
allele frequency: 1.658759911090469e-5
allele num: 120572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4457G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.281-45G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.303-45G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.692G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.273-45G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.273-45G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3989G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3021G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.303-45G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.490-45G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.57-45G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.273-45G>A
  variant of: http://identifiers.org/hgnc/28983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5100
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP

17-73482341-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482341
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482341
    reference: chr 17
allele count: 1
allele frequency: 8.278831029058698e-6
allele num: 120790
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3974G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.707G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.273-30G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4442G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.273-30G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.57-30G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.490-30G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.273-30G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.281-30G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.303-30G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3006G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.303-30G>A
  variant of: http://identifiers.org/hgnc/28983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

17-73482343-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482343
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482343
    reference: chr 17
allele count: 1
allele frequency: 8.277049397430804e-6
allele num: 120816
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.273-28G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.490-28G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.57-28G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.281-28G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.709G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3972G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.273-28G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4440G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3004G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.303-28G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.303-28G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.273-28G>C
  variant of: http://identifiers.org/hgnc/28983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

17-73482344-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482344
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482344
    reference: chr 17
allele count: 2
allele frequency: 1.655108492361674e-5
allele num: 120838
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.710G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3971G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.281-27G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4439G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.57-27G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3003G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.303-27G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.273-27G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.490-27G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.273-27G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.273-27G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.303-27G>T
  variant of: http://identifiers.org/hgnc/28983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

17-73482345-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482345
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482345
    reference: chr 17
allele count: 1
allele frequency: 8.274309922552459e-6
allele num: 120856
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.273-26G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.273-26G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.303-26G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.490-26G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.281-26G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.711G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4438G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.57-26G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.273-26G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3002G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.303-26G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3970G>A
  variant of: http://identifiers.org/hgnc/28983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

17-73482345-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482345
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482345
    reference: chr 17
allele count: 3
allele frequency: 2.482292976765738e-5
allele num: 120856
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.273-26G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.490-26G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.57-26G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.303-26G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4438G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.273-26G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.281-26G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.711G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3970G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-3002G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.303-26G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.273-26G>T
  variant of: http://identifiers.org/hgnc/28983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7850
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

17-73482348-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482348
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482348
    reference: chr 17
allele count: 2
allele frequency: 1.655135886656295e-5
allele num: 120836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.714C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.57-23C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.490-23C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.273-23C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2999C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3967C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.303-23C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.281-23C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.273-23C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.273-23C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.303-23C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4435C>T
  variant of: http://identifiers.org/hgnc/28983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

17-73482349-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482349
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482349
    reference: chr 17
allele count: 7
allele frequency: 5.787994046634695e-5
allele num: 120940
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.57-22G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.273-22G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4434G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.715G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2998G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.490-22G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.273-22G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.303-22G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.273-22G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.281-22G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3966G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.303-22G>A
  variant of: http://identifiers.org/hgnc/28983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8043
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7854
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5826
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS

17-73482361-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482361
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482361
    reference: chr 17
allele count: 1
allele frequency: 8.255729476256522e-6
allele num: 121128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.490-10C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.57-10C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.281-10C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2986C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3954C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.303-10C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.727C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.303-10C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.273-10C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.273-10C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.273-10C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4422C>T
  variant of: http://identifiers.org/hgnc/28983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

17-73482362-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482362
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482362
    reference: chr 17
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.273-9T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.273-9T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4421T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.728T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.303-9T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.57-9T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.490-9T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2985T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.281-9T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.273-9T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3953T>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.303-9T>C
  variant of: http://identifiers.org/hgnc/28983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7856
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

17-73482365-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482365
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482365
    reference: chr 17
allele count: 1
allele frequency: 8.253685270473266e-6
allele num: 121158
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.490-6C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.731C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.273-6C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.281-6C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4418C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.303-6C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.273-6C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.273-6C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.303-6C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3950C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.57-6C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2982C>T
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.273-6C>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-73482368-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482368
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482368
    reference: chr 17
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.303-3C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.273-3C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.281-3C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.490-3C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.734C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3947C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.57-3C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.303-3C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.273-3C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.273-3C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2979C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4415C>T
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.273-3C>T
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ

17-73482373-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482373
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482373
    reference: chr 17
allele count: 35
allele frequency: 2.886312282495753e-4
allele num: 121262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.59G>A
  hgvsp: ENSP00000462821.1:p.Arg20His
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.275G>A
  hgvsp: ENSP00000313885.7:p.Arg92His
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2974G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.275G>A
  hgvsp: ENSP00000463620.1:p.Arg92His
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.492G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.739G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.283G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3942G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.305G>A
  hgvsp: ENSP00000462344.1:p.Arg102His
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.275G>A
  hgvsp: ENSP00000464479.1:p.Arg92His
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4410G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.305G>A
  hgvsp: ENSP00000364397.5:p.Arg102His
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7852
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg92His
num of homozygotes: 1
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum

17-73482373-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482373
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482373
    reference: chr 17
allele count: 10
allele frequency: 8.246606521416437e-5
allele num: 121262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.275G>T
  hgvsp: ENSP00000463620.1:p.Arg92Leu
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.59G>T
  hgvsp: ENSP00000462821.1:p.Arg20Leu
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.305G>T
  hgvsp: ENSP00000364397.5:p.Arg102Leu
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.275G>T
  hgvsp: ENSP00000313885.7:p.Arg92Leu
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.275G>T
  hgvsp: ENSP00000464479.1:p.Arg92Leu
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3942G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.283G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.305G>T
  hgvsp: ENSP00000462344.1:p.Arg102Leu
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.492G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.739G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2974G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4410G>T
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg92Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

17-73482375-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482375
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482375
    reference: chr 17
allele count: 2
allele frequency: 1.649185302460584e-5
allele num: 121272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.61G>C
  hgvsp: ENSP00000462821.1:p.Gly21Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3940G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2972G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.741G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.277G>C
  hgvsp: ENSP00000313885.7:p.Gly93Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.307G>C
  hgvsp: ENSP00000364397.5:p.Gly103Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.277G>C
  hgvsp: ENSP00000463620.1:p.Gly93Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.307G>C
  hgvsp: ENSP00000462344.1:p.Gly103Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.285G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.277G>C
  hgvsp: ENSP00000464479.1:p.Gly93Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4408G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.494G>C
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly93Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

17-73482377-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482377
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482377
    reference: chr 17
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.496G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.279G>A
  hgvsp: ENST00000577380.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.279G>A
  hgvsp: ENST00000581519.1:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.309G>A
  hgvsp: ENST00000579707.1:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.63G>A
  hgvsp: ENST00000582186.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.309G>A
  hgvsp: ENST00000375248.5:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4406G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.287G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.743G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.279G>A
  hgvsp: ENST00000314256.7:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3938G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2970G>A
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly93Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

17-73482378-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482378
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482378
    reference: chr 17
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2969G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.280G>A
  hgvsp: ENSP00000464479.1:p.Val94Met
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3937G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4405G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.310G>A
  hgvsp: ENSP00000462344.1:p.Val104Met
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.288G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.64G>A
  hgvsp: ENSP00000462821.1:p.Val22Met
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.744G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.497G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.280G>A
  hgvsp: ENSP00000463620.1:p.Val94Met
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.280G>A
  hgvsp: ENSP00000313885.7:p.Val94Met
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.310G>A
  hgvsp: ENSP00000364397.5:p.Val104Met
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5496
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val94Met
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-73482389-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482389
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482389
    reference: chr 17
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.508G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4394G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3926G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.291G>A
  hgvsp: ENST00000581519.1:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.291G>A
  hgvsp: ENST00000577380.1:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.321G>A
  hgvsp: ENST00000579707.1:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.321G>A
  hgvsp: ENST00000375248.5:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.755G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2958G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.299G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.291G>A
  hgvsp: ENST00000314256.7:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.75G>A
  hgvsp: ENST00000582186.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val97Val
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

17-73482397-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482397
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482397
    reference: chr 17
allele count: 6
allele frequency: 4.943886883868097e-5
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4386C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3918C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.329C>T
  hgvsp: ENSP00000364397.5:p.Ser110Leu
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.516C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.299C>T
  hgvsp: ENSP00000464479.1:p.Ser100Leu
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.299C>T
  hgvsp: ENSP00000463620.1:p.Ser100Leu
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.329C>T
  hgvsp: ENSP00000462344.1:p.Ser110Leu
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.307C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.83C>T
  hgvsp: ENSP00000462821.1:p.Ser28Leu
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2950C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.299C>T
  hgvsp: ENSP00000313885.7:p.Ser100Leu
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.763C>T
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.Ser100Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS

17-73482398-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482398
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482398
    reference: chr 17
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.330G>A
  hgvsp: ENST00000375248.5:c.330G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.300G>A
  hgvsp: ENST00000314256.7:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.300G>A
  hgvsp: ENST00000577380.1:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3917G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.300G>A
  hgvsp: ENST00000581519.1:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.764G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4385G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.330G>A
  hgvsp: ENST00000579707.1:c.330G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2949G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.84G>A
  hgvsp: ENST00000582186.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.517G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.308G>A
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser100Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

17-73482416-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482416
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482416
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4367G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.326G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.102G>A
  hgvsp: ENST00000582186.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.782G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.318G>A
  hgvsp: ENST00000577380.1:c.318G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464491
  ensembl transcript: ENST00000580441
  gene symbol: KIAA0195
  hgvsc: ENST00000580441.1:c.4G>A
  hgvsp: ENST00000580441.1:c.4G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.535G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.318G>A
  hgvsp: ENST00000581519.1:c.318G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2931G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.348G>A
  hgvsp: ENST00000375248.5:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.318G>A
  hgvsp: ENST00000314256.7:c.318G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.348G>A
  hgvsp: ENST00000579707.1:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3899G>A
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7858
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu106Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

17-73482420-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482420
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482420
    reference: chr 17
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3895C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.330C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.786C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462821
  ensembl transcript: ENST00000582186
  gene symbol: KIAA0195
  hgvsc: ENST00000582186.1:c.106C>T
  hgvsp: ENST00000582186.1:c.106C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.322C>T
  hgvsp: ENSP00000463620.1:p.Leu108Phe
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.322C>T
  hgvsp: ENSP00000313885.7:p.Leu108Phe
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.539C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4363C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464491
  ensembl transcript: ENST00000580441
  gene symbol: KIAA0195
  hgvsc: ENST00000580441.1:c.8C>T
  hgvsp: ENSP00000464491.1:p.Leu4Phe
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.322C>T
  hgvsp: ENSP00000464479.1:p.Leu108Phe
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.352C>T
  hgvsp: ENSP00000364397.5:p.Leu118Phe
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.352C>T
  hgvsp: ENSP00000462344.1:p.Leu118Phe
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2927C>T
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7858
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu108Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum

17-73482425-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482425
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482425
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.357C>G
  hgvsp: ENSP00000462344.1:p.Asn119Lys
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.335C>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.327C>G
  hgvsp: ENSP00000463620.1:p.Asn109Lys
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.357C>G
  hgvsp: ENSP00000364397.5:p.Asn119Lys
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464491
  ensembl transcript: ENST00000580441
  gene symbol: KIAA0195
  hgvsc: ENST00000580441.1:c.13C>G
  hgvsp: ENSP00000464491.1:p.Asn5Lys
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.327C>G
  hgvsp: ENSP00000464479.1:p.Asn109Lys
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2922C>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.544C>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4358C>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.327C>G
  hgvsp: ENSP00000313885.7:p.Asn109Lys
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3890C>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.791C>G
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7858
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn109Lys
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

17-73482426-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482426
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482426
    reference: chr 17
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.336C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.358C>T
  hgvsp: ENSP00000364397.5:p.Leu120Phe
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.328C>T
  hgvsp: ENSP00000464479.1:p.Leu110Phe
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.792C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.328C>T
  hgvsp: ENSP00000463620.1:p.Leu110Phe
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2921C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.358C>T
  hgvsp: ENSP00000462344.1:p.Leu120Phe
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000583795
  gene symbol: KIAA0195
  hgvsc: ENST00000583795.1:n.1C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.545C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464491
  ensembl transcript: ENST00000580441
  gene symbol: KIAA0195
  hgvsc: ENST00000580441.1:c.14C>T
  hgvsp: ENSP00000464491.1:p.Leu6Phe
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3889C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.328C>T
  hgvsp: ENSP00000313885.7:p.Leu110Phe
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4357C>T
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Leu110Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

17-73482435-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482435
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482435
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2912A>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.345A>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.337A>G
  hgvsp: ENSP00000463620.1:p.Ile113Val
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.554A>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.801A>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3880A>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000583795
  gene symbol: KIAA0195
  hgvsc: ENST00000583795.1:n.10A>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4348A>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.367A>G
  hgvsp: ENSP00000364397.5:p.Ile123Val
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.337A>G
  hgvsp: ENSP00000313885.7:p.Ile113Val
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.367A>G
  hgvsp: ENSP00000462344.1:p.Ile123Val
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.337A>G
  hgvsp: ENSP00000464479.1:p.Ile113Val
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464491
  ensembl transcript: ENST00000580441
  gene symbol: KIAA0195
  hgvsc: ENST00000580441.1:c.23A>G
  hgvsp: ENSP00000464491.1:p.Ile9Val
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile113Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

17-73482437-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482437
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482437
    reference: chr 17
allele count: 9
allele frequency: 7.413631196560076e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.369C>T
  hgvsp: ENST00000375248.5:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3878C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464491
  ensembl transcript: ENST00000580441
  gene symbol: KIAA0195
  hgvsc: ENST00000580441.1:c.25C>T
  hgvsp: ENST00000580441.1:c.25C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.347C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.369C>T
  hgvsp: ENST00000579707.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.339C>T
  hgvsp: ENST00000314256.7:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.556C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.339C>T
  hgvsp: ENST00000577380.1:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.339C>T
  hgvsp: ENST00000581519.1:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2910C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.803C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4346C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000583795
  gene symbol: KIAA0195
  hgvsc: ENST00000583795.1:n.12C>T
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6386
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile113Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

17-73482438-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482438
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482438
    reference: chr 17
allele count: 3
allele frequency: 2.471210398853358e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.370G>A
  hgvsp: ENSP00000462344.1:p.Gly124Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.348G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2909G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.340G>A
  hgvsp: ENSP00000313885.7:p.Gly114Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.340G>A
  hgvsp: ENSP00000464479.1:p.Gly114Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.340G>A
  hgvsp: ENSP00000463620.1:p.Gly114Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464491
  ensembl transcript: ENST00000580441
  gene symbol: KIAA0195
  hgvsc: ENST00000580441.1:c.26G>A
  hgvsp: ENSP00000464491.1:p.Gly10Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4345G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000583795
  gene symbol: KIAA0195
  hgvsc: ENST00000583795.1:n.13G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.370G>A
  hgvsp: ENSP00000364397.5:p.Gly124Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.804G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.557G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3877G>A
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly114Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP

17-73482438-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482438
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482438
    reference: chr 17
allele count: 4
allele frequency: 3.294947198471145e-5
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3877G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.370G>C
  hgvsp: ENSP00000462344.1:p.Gly124Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4345G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.557G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.348G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.804G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.370G>C
  hgvsp: ENSP00000364397.5:p.Gly124Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2909G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.340G>C
  hgvsp: ENSP00000464479.1:p.Gly114Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000583795
  gene symbol: KIAA0195
  hgvsc: ENST00000583795.1:n.13G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.340G>C
  hgvsp: ENSP00000463620.1:p.Gly114Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464491
  ensembl transcript: ENST00000580441
  gene symbol: KIAA0195
  hgvsc: ENST00000580441.1:c.26G>C
  hgvsp: ENSP00000464491.1:p.Gly10Arg
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.340G>C
  hgvsp: ENSP00000313885.7:p.Gly114Arg
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly114Arg
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

17-73482441-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482441
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482441
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4342C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.343C>T
  hgvsp: ENSP00000313885.7:p.Arg115Trp
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.373C>T
  hgvsp: ENSP00000462344.1:p.Arg125Trp
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.351C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2906C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.560C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.343C>T
  hgvsp: ENSP00000464479.1:p.Arg115Trp
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000583795
  gene symbol: KIAA0195
  hgvsc: ENST00000583795.1:n.16C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.373C>T
  hgvsp: ENSP00000364397.5:p.Arg125Trp
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464491
  ensembl transcript: ENST00000580441
  gene symbol: KIAA0195
  hgvsc: ENST00000580441.1:c.29C>T
  hgvsp: ENSP00000464491.1:p.Arg11Trp
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3874C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.807C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.343C>T
  hgvsp: ENSP00000463620.1:p.Arg115Trp
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg115Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-73482442-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482442
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482442
    reference: chr 17
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.344G>A
  hgvsp: ENSP00000464479.1:p.Arg115Gln
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.561G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4341G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.374G>A
  hgvsp: ENSP00000364397.5:p.Arg125Gln
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.344G>A
  hgvsp: ENSP00000463620.1:p.Arg115Gln
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.808G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.344G>A
  hgvsp: ENSP00000313885.7:p.Arg115Gln
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.374G>A
  hgvsp: ENSP00000462344.1:p.Arg125Gln
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.352G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464491
  ensembl transcript: ENST00000580441
  gene symbol: KIAA0195
  hgvsc: ENST00000580441.1:c.30G>A
  hgvsp: ENSP00000464491.1:p.Arg11Gln
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3873G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2905G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000583795
  gene symbol: KIAA0195
  hgvsc: ENST00000583795.1:n.17G>A
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg115Gln
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

17-73482442-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482442
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482442
    reference: chr 17
allele count: 129
allele frequency: 1.06263797818709e-3
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.808G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.344G>T
  hgvsp: ENSP00000313885.7:p.Arg115Leu
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.374G>T
  hgvsp: ENSP00000462344.1:p.Arg125Leu
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.344G>T
  hgvsp: ENSP00000464479.1:p.Arg115Leu
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000583795
  gene symbol: KIAA0195
  hgvsc: ENST00000583795.1:n.17G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2905G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.561G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.344G>T
  hgvsp: ENSP00000463620.1:p.Arg115Leu
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464491
  ensembl transcript: ENST00000580441
  gene symbol: KIAA0195
  hgvsc: ENST00000580441.1:c.30G>T
  hgvsp: ENSP00000464491.1:p.Arg11Leu
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.374G>T
  hgvsp: ENSP00000364397.5:p.Arg125Leu
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.352G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3873G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4341G>T
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8050
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5501
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 7822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6663
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg115Leu
num of homozygotes: 2
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/17-73482448-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482448
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482448
    reference: chr 17
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464491
  ensembl transcript: ENST00000580441
  gene symbol: KIAA0195
  hgvsc: ENST00000580441.1:c.36A>C
  hgvsp: ENSP00000464491.1:p.Asp13Ala
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.380A>C
  hgvsp: ENSP00000364397.5:p.Asp127Ala
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.567A>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.350A>C
  hgvsp: ENSP00000464479.1:p.Asp117Ala
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.814A>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3867A>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4335A>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000583795
  gene symbol: KIAA0195
  hgvsc: ENST00000583795.1:n.23A>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2899A>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.350A>C
  hgvsp: ENSP00000463620.1:p.Asp117Ala
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.380A>C
  hgvsp: ENSP00000462344.1:p.Asp127Ala
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.358A>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.350A>C
  hgvsp: ENSP00000313885.7:p.Asp117Ala
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8068
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp117Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/17-73482449-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482449
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482449
    reference: chr 17
allele count: 11
allele frequency: 9.06140336425194e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.381C>A
  hgvsp: ENSP00000462344.1:p.Asp127Glu
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.351C>A
  hgvsp: ENSP00000464479.1:p.Asp117Glu
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.568C>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2898C>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4334C>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.351C>A
  hgvsp: ENSP00000463620.1:p.Asp117Glu
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.381C>A
  hgvsp: ENSP00000364397.5:p.Asp127Glu
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464491
  ensembl transcript: ENST00000580441
  gene symbol: KIAA0195
  hgvsc: ENST00000580441.1:c.37C>A
  hgvsp: ENSP00000464491.1:p.Asp13Glu
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000583795
  gene symbol: KIAA0195
  hgvsc: ENST00000583795.1:n.24C>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3866C>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.351C>A
  hgvsp: ENSP00000313885.7:p.Asp117Glu
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.815C>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.359C>A
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp117Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

17-73482450-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482450
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482450
    reference: chr 17
allele count: 7
allele frequency: 5.766347595433053e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3865C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000583795
  gene symbol: KIAA0195
  hgvsc: ENST00000583795.1:n.25C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.382C>T
  hgvsp: ENSP00000462344.1:p.Arg128Trp
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.352C>T
  hgvsp: ENSP00000463620.1:p.Arg118Trp
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.352C>T
  hgvsp: ENSP00000313885.7:p.Arg118Trp
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.352C>T
  hgvsp: ENSP00000464479.1:p.Arg118Trp
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.382C>T
  hgvsp: ENSP00000364397.5:p.Arg128Trp
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2897C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464491
  ensembl transcript: ENST00000580441
  gene symbol: KIAA0195
  hgvsc: ENST00000580441.1:c.38C>T
  hgvsp: ENSP00000464491.1:p.Arg14Trp
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.816C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4333C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.360C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.569C>T
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg118Trp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-73482459-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482459
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482459
    reference: chr 17
allele count: 5
allele frequency: 4.118955432902216e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.391C>T
  hgvsp: ENSP00000462344.1:p.Arg131Cys
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.391C>T
  hgvsp: ENSP00000364397.5:p.Arg131Cys
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2888C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.369C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.361C>T
  hgvsp: ENSP00000464479.1:p.Arg121Cys
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000583795
  gene symbol: KIAA0195
  hgvsc: ENST00000583795.1:n.34C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4324C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.825C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.578C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.361C>T
  hgvsp: ENSP00000463620.1:p.Arg121Cys
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.361C>T
  hgvsp: ENSP00000313885.7:p.Arg121Cys
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3856C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464491
  ensembl transcript: ENST00000580441
  gene symbol: KIAA0195
  hgvsc: ENST00000580441.1:c.47C>T
  hgvsp: ENSP00000464491.1:p.Arg17Cys
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg121Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-73482460-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482460
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482460
    reference: chr 17
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.392G>A
  hgvsp: ENSP00000364397.5:p.Arg131His
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.826G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464479
  ensembl transcript: ENST00000577380
  gene symbol: KIAA0195
  hgvsc: ENST00000577380.1:c.362G>A
  hgvsp: ENSP00000464479.1:p.Arg121His
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000583795
  gene symbol: KIAA0195
  hgvsc: ENST00000583795.1:n.35G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3855G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.362G>A
  hgvsp: ENSP00000313885.7:p.Arg121His
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4323G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2887G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.370G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.579G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464491
  ensembl transcript: ENST00000580441
  gene symbol: KIAA0195
  hgvsc: ENST00000580441.1:c.48G>A
  hgvsp: ENSP00000464491.1:p.Arg17His
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.362G>A
  hgvsp: ENSP00000463620.1:p.Arg121His
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.392G>A
  hgvsp: ENSP00000462344.1:p.Arg131His
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg121His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

17-73482462-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482462
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482462
    reference: chr 17
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2885C>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4321C>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.394C>G
  hgvsp: ENSP00000364397.5:p.Arg132Gly
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.372C>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.364C>G
  hgvsp: ENSP00000313885.7:p.Arg122Gly
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.581C>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464491
  ensembl transcript: ENST00000580441
  gene symbol: KIAA0195
  hgvsc: ENST00000580441.1:c.50C>G
  hgvsp: ENSP00000464491.1:p.Arg18Gly
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3853C>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.394C>G
  hgvsp: ENSP00000462344.1:p.Arg132Gly
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.364C>G
  hgvsp: ENSP00000463620.1:p.Arg122Gly
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000583795
  gene symbol: KIAA0195
  hgvsc: ENST00000583795.1:n.37C>G
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.828C>G
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg122Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

17-73482462-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482462
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482462
    reference: chr 17
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.364C>T
  hgvsp: ENSP00000313885.7:p.Arg122Trp
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2885C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.828C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.394C>T
  hgvsp: ENSP00000462344.1:p.Arg132Trp
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000583795
  gene symbol: KIAA0195
  hgvsc: ENST00000583795.1:n.37C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.364C>T
  hgvsp: ENSP00000463620.1:p.Arg122Trp
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.581C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.394C>T
  hgvsp: ENSP00000364397.5:p.Arg132Trp
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.372C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4321C>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464491
  ensembl transcript: ENST00000580441
  gene symbol: KIAA0195
  hgvsc: ENST00000580441.1:c.50C>T
  hgvsp: ENSP00000464491.1:p.Arg18Trp
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3853C>T
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8072
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg122Trp
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

17-73482463-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482463
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482463
    reference: chr 17
allele count: 2
allele frequency: 1.647636465490254e-5
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.829G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464491
  ensembl transcript: ENST00000580441
  gene symbol: KIAA0195
  hgvsc: ENST00000580441.1:c.51G>A
  hgvsp: ENSP00000464491.1:p.Arg18Gln
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2884G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.395G>A
  hgvsp: ENSP00000462344.1:p.Arg132Gln
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.365G>A
  hgvsp: ENSP00000313885.7:p.Arg122Gln
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.365G>A
  hgvsp: ENSP00000463620.1:p.Arg122Gln
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4320G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.395G>A
  hgvsp: ENSP00000364397.5:p.Arg132Gln
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000583795
  gene symbol: KIAA0195
  hgvsc: ENST00000583795.1:n.38G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.582G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3852G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.373G>A
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg122Gln
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-73482463-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482463
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482463
    reference: chr 17
allele count: 14
allele frequency: 1.153345525843178e-4
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.373G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.365G>T
  hgvsp: ENSP00000313885.7:p.Arg122Leu
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464491
  ensembl transcript: ENST00000580441
  gene symbol: KIAA0195
  hgvsc: ENST00000580441.1:c.51G>T
  hgvsp: ENSP00000464491.1:p.Arg18Leu
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.365G>T
  hgvsp: ENSP00000463620.1:p.Arg122Leu
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.395G>T
  hgvsp: ENSP00000364397.5:p.Arg132Leu
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000583795
  gene symbol: KIAA0195
  hgvsc: ENST00000583795.1:n.38G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.395G>T
  hgvsp: ENSP00000462344.1:p.Arg132Leu
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4320G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.582G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.829G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2884G>T
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3852G>T
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg122Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

17-73482465-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482465
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482465
    reference: chr 17
allele count: 6
allele frequency: 4.942990838990312e-5
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.831G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.367G>A
  hgvsp: ENSP00000313885.7:p.Glu123Lys
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.397G>A
  hgvsp: ENSP00000462344.1:p.Glu133Lys
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000583795
  gene symbol: KIAA0195
  hgvsc: ENST00000583795.1:n.40G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2882G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4318G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464491
  ensembl transcript: ENST00000580441
  gene symbol: KIAA0195
  hgvsc: ENST00000580441.1:c.53G>A
  hgvsp: ENSP00000464491.1:p.Glu19Lys
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.584G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.375G>A
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.397G>A
  hgvsp: ENSP00000364397.5:p.Glu133Lys
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.367G>A
  hgvsp: ENSP00000463620.1:p.Glu123Lys
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3850G>A
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu123Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

17-73482467-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73482467
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73482467
    reference: chr 17
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000580416
  gene symbol: KIAA0195
  hgvsc: ENST00000580416.1:n.242-2880G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464491
  ensembl transcript: ENST00000580441
  gene symbol: KIAA0195
  hgvsc: ENST00000580441.1:c.55G>C
  hgvsp: ENSP00000464491.1:p.Glu19Asp
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463620
  ensembl transcript: ENST00000581519
  gene symbol: KIAA0195
  hgvsc: ENST00000581519.1:c.369G>C
  hgvsp: ENSP00000463620.1:p.Glu123Asp
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000583795
  gene symbol: KIAA0195
  hgvsc: ENST00000583795.1:n.42G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000364397
  ensembl transcript: ENST00000375248
  gene symbol: KIAA0195
  hgvsc: ENST00000375248.5:c.399G>C
  hgvsp: ENSP00000364397.5:p.Glu133Asp
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000463929
  ensembl transcript: ENST00000579208
  gene symbol: KIAA0195
  hgvsc: ENST00000579208.1:c.25-4316G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000313885
  ensembl transcript: ENST00000314256
  gene symbol: KIAA0195
  hgvsc: ENST00000314256.7:c.369G>C
  hgvsp: ENSP00000313885.7:p.Glu123Asp
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000464370
  ensembl transcript: ENST00000581252
  gene symbol: KIAA0195
  hgvsc: ENST00000581252.1:c.-90-3848G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177728
  ensembl protein: ENSP00000462344
  ensembl transcript: ENST00000579707
  gene symbol: KIAA0195
  hgvsc: ENST00000579707.1:c.399G>C
  hgvsp: ENSP00000462344.1:p.Glu133Asp
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000585105
  gene symbol: KIAA0195
  hgvsc: ENST00000585105.1:n.833G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000584383
  gene symbol: KIAA0195
  hgvsc: ENST00000584383.1:n.377G>C
  variant of: http://identifiers.org/hgnc/28983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177728
  ensembl transcript: ENST00000581085
  gene symbol: KIAA0195
  hgvsc: ENST00000581085.1:n.586G>C
  variant of: http://identifiers.org/hgnc/28983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7878
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu123Asp
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40782
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9528
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3457
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10988
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.205025479952566e-5
allele num: 62402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9272
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15800
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQRankSum
type: SiteQuality
SIO_000300: 6.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.032e1

VQSLOD
type: SiteQuality
SIO_000300: -1.519e0

FS
type: SiteQuality
SIO_000300: 3.146e0

DP
type: SiteQuality
SIO_000300: 1.339211e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.367e0

GenotypeDepth
all individuals: 14393
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 299
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10991
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3113
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37973
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 4.441483455474128e-4
allele num: 9006
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.627392266631949e-5
allele num: 61448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

BaseQRankSum
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SIO_000300: 6.8e-1

QD
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SIO_000300: 1.244e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.317e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

FS
type: SiteQuality
SIO_000300: 3.565e0

DP
type: SiteQuality
SIO_000300: 1.313705e6

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 61

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3137
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 222
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.754820936639118e-4
allele num: 10890
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.35970490969219e-5
allele num: 15724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 60
allele frequency: 9.683666881859264e-4
allele num: 61960
num of homozygotes: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9208
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.225490196078431e-3
allele num: 816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.143e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-1

BaseQRankSum
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SIO_000300: -4.89e-1

MQ
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SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 1.981e0

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

DP
type: SiteQuality
SIO_000300: 1.315397e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5498
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8250
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.386511687316388e-5
allele num: 15658
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61522
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10828
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.561e0

MQ
type: SiteQuality
SIO_000300: 6.035e1

InbreedingCoeff
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SIO_000300: -4.5e-3

FS
type: SiteQuality
SIO_000300: 1.3627e1

MQRankSum
type: SiteQuality
SIO_000300: 4.94e-1

ReadPosRankSum
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SIO_000300: 1.09e0

QD
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SIO_000300: 1.337e1

BaseQRankSum
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SIO_000300: 2.19e0

VQSLOD
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SIO_000300: -1.82e0

DP
type: SiteQuality
SIO_000300: 1.291106e6

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8962
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8146
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.883593897155773e-4
allele num: 10618
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.508721687060662e-5
allele num: 15364
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.95e-1

DP
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SIO_000300: 1.226837e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: -6.747e-1

BaseQRankSum
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -6.1e-3

FS
type: SiteQuality
SIO_000300: 4.336e0

QD
type: SiteQuality
SIO_000300: 1.864e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8946
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.63826998689384e-5
allele num: 61040
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15338
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5454
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.026999999999999e0

BaseQRankSum
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SIO_000300: -1.658e0

ReadPosRankSum
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SIO_000300: 2.07e-1

DP
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SIO_000300: 1.217796e6

VQSLOD
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MQRankSum
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MQ
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SIO_000300: 5.96e1

ClippingRankSum
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SIO_000300: -3.91e-1

QD
type: SiteQuality
SIO_000300: 8.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 2301
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8946
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5454
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15338
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.63826998689384e-5
allele num: 61040
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
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MQ
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ReadPosRankSum
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QD
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FS
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQRankSum
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DP
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SIO_000300: 1.217796e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15040
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.647337901950448e-5
allele num: 60704
num of homozygotes: 0

Other
type: Population
allele count: 0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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FS
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MQRankSum
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MQ
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DP
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.69284940411701e-5
allele num: 59072
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5074
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.629e-1

FS
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SIO_000300: 2.251e0

MQRankSum
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SIO_000300: 4.82e-1

ClippingRankSum
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SIO_000300: 5.74e-1

MQ
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SIO_000300: 6.039e1

ReadPosRankSum
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DP
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InbreedingCoeff
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SIO_000300: -1.22e-2

BaseQRankSum
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SIO_000300: -1.953e0

QD
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SIO_000300: 9.880000000000001e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.298364061282784e-4
allele num: 7702
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.597510522718279e-5
allele num: 55594
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
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SIO_000300: 9.24e-1

VQSLOD
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MQ
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SIO_000300: 5.936e1

FS
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QD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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SIO_000300: -5.620000000000001e-1

BaseQRankSum
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SIO_000300: 1.25e0

DP
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SIO_000300: 1.144419e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4480
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 8.210180623973728e-5
allele num: 12180
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.821294576184752e-5
allele num: 54906
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.94e0

DP
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SIO_000300: 1.143548e6

MQRankSum
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SIO_000300: -2.71e-1

MQ
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SIO_000300: 5.945e1

VQSLOD
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
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BaseQRankSum
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SIO_000300: -2.176e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.92e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.33e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10058
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7216
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.090988435522584e-4
allele num: 9166
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 49176
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.504e0

VQSLOD
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SIO_000300: 1.12e-1

InbreedingCoeff
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SIO_000300: -2.58e-2

BaseQRankSum
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SIO_000300: 6.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
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SIO_000300: 1.126242e6

QD
type: SiteQuality
SIO_000300: 1.537e1

ClippingRankSum
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.21e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 49198
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.089324618736383e-4
allele num: 9180
num of homozygotes: 0

African
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allele count: 0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7316
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
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QD
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FS
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BaseQRankSum
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SIO_000300: -2.117e0

ClippingRankSum
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SIO_000300: 3.08e-1

InbreedingCoeff
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SIO_000300: -2.6e-2

MQRankSum
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MQ
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SIO_000300: 5.995e1

ReadPosRankSum
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6992
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8700
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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Other
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DP
type: SiteQuality
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VQSLOD
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QD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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ClippingRankSum
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FS
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 4.893325504012527e-5
allele num: 40872
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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East Asian
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Latino
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Other
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MQRankSum
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BaseQRankSum
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VQSLOD
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FS
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MQ
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InbreedingCoeff
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ClippingRankSum
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DP
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 6.868131868131868e-5
allele num: 29120
num of homozygotes: 0

European (Finnish)
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African
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Other
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VQSLOD
type: SiteQuality
SIO_000300: -1.731e0

ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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SIO_000300: -4.35e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.076227e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

QD
type: SiteQuality
SIO_000300: 1.821e1

GenotypeDepth
all individuals: 6
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 357
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GenotypeQuality
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GenotypeQuality
all individuals: 2492
bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 2107
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1136
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.360513929525506e-5
allele num: 15722
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.922e0

DP
type: SiteQuality
SIO_000300: 1.043931e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.59e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.341e1

MQ
type: SiteQuality
SIO_000300: 6.265e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-2

GenotypeDepth
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 2098
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1002
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3982
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.79e-2

FS
type: SiteQuality
SIO_000300: 5.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.433e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

DP
type: SiteQuality
SIO_000300: 9.77415e5

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

MQ
type: SiteQuality
SIO_000300: 5.996e1

QD
type: SiteQuality
SIO_000300: 5.4e0

GenotypeDepth
all individuals: 33
bin: 5.75e1
variant carriers: 31

GenotypeQuality
all individuals: 4507
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variant carriers: 4082

GenotypeQuality
all individuals: 15179
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variant carriers: 15168

GenotypeQuality
all individuals: 1250
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variant carriers: 181

GenotypeQuality
all individuals: 2913
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variant carriers: 2672

GenotypeQuality
all individuals: 4383
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variant carriers: 4307

GenotypeQuality
all individuals: 3258
bin: 6.25e1
variant carriers: 2913

GenotypeQuality
all individuals: 2035
bin: 1.75e1
variant carriers: 1905

GenotypeQuality
all individuals: 4466
bin: 4.75e1
variant carriers: 4416

GenotypeQuality
all individuals: 1968
bin: 7.25e1
variant carriers: 1956

GenotypeQuality
all individuals: 852
bin: 7.5e0
variant carriers: 478

GenotypeQuality
all individuals: 1252
bin: 8.75e1
variant carriers: 1246

GenotypeQuality
all individuals: 3720
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variant carriers: 2262

GenotypeQuality
all individuals: 912
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variant carriers: 791

GenotypeQuality
all individuals: 1498
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variant carriers: 1488

GenotypeQuality
all individuals: 2301
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variant carriers: 2276

GenotypeQuality
all individuals: 868
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variant carriers: 865

GenotypeQuality
all individuals: 836
bin: 9.25e1
variant carriers: 835

GenotypeQuality
all individuals: 2951
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variant carriers: 2544

GenotypeQuality
all individuals: 1274
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variant carriers: 1237

GenotypeQuality
all individuals: 3554
bin: 5.75e1
variant carriers: 3536

East Asian
type: Population
allele count: 3934
allele frequency: 5.505177721802407e-1
allele num: 7146
num of homozygotes: 1044

South Asian
type: Population
allele count: 11003
allele frequency: 8.795363709032774e-1
allele num: 12510
num of homozygotes: 4827

Other
type: Population
allele count: 526
allele frequency: 7.850746268656716e-1
allele num: 670
num of homozygotes: 206

European (Non-Finnish)
type: Population
allele count: 46247
allele frequency: 8.536436798582399e-1
allele num: 54176
num of homozygotes: 19653

Latino
type: Population
allele count: 4207
allele frequency: 4.856845993996767e-1
allele num: 8662
num of homozygotes: 962

European (Finnish)
type: Population
allele count: 3881
allele frequency: 8.525922671353251e-1
allele num: 4552
num of homozygotes: 1643

African
type: Population
allele count: 6390
allele frequency: 8.144277338771349e-1
allele num: 7846
num of homozygotes: 2571

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

FS
type: SiteQuality
SIO_000300: 7.41e-1

QD
type: SiteQuality
SIO_000300: 3.032e1

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.50515e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.325e-1

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 102
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variant carriers: 0

GenotypeQuality
all individuals: 20680
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8125
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variant carriers: 0

GenotypeQuality
all individuals: 5086
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variant carriers: 0

GenotypeQuality
all individuals: 85
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1007
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GenotypeQuality
all individuals: 2025
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variant carriers: 0

GenotypeQuality
all individuals: 1674
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variant carriers: 0

GenotypeQuality
all individuals: 3954
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GenotypeQuality
all individuals: 312
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variant carriers: 0

GenotypeQuality
all individuals: 505
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GenotypeQuality
all individuals: 271
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variant carriers: 9

GenotypeQuality
all individuals: 185
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6788
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7172
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 6.544502617801048e-4
allele num: 10696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49036
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.493765586034913e-4
allele num: 4010
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

DP
type: SiteQuality
SIO_000300: 8.176e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 8.643000000000001e0

QD
type: SiteQuality
SIO_000300: 1.403e1

VQSLOD
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeDepth
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 5168
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variant carriers: 0

GenotypeQuality
all individuals: 1702
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5615
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GenotypeQuality
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GenotypeQuality
all individuals: 263
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variant carriers: 1

GenotypeQuality
all individuals: 991
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8090
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49216
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.480604086467279e-4
allele num: 6754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3992
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10702
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.8e-1

MQRankSum
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DP
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MQ
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QD
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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FS
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SIO_000300: 6.513e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.005e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 228
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GenotypeQuality
all individuals: 1988
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GenotypeQuality
all individuals: 248
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GenotypeQuality
all individuals: 918
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GenotypeQuality
all individuals: 260
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GenotypeQuality
all individuals: 20564
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6700
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7040
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3964
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.259763164525069e-4
allele num: 7938
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.678e1

BaseQRankSum
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SIO_000300: 2.07e0

InbreedingCoeff
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SIO_000300: -1.12e-2

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

DP
type: SiteQuality
SIO_000300: 7.97817e5

GenotypeDepth
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 273
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 657
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GenotypeQuality
all individuals: 260
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GenotypeQuality
all individuals: 3733
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GenotypeQuality
all individuals: 2889
bin: 6.25e1
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GenotypeQuality
all individuals: 83
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GenotypeQuality
all individuals: 77
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GenotypeQuality
all individuals: 162
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3774
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.3e-2

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
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GenotypeDepth
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 2021
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5734
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3315
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18193
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8420
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5981
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5129
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3192
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2939
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2203
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.144634125418203e-5
allele num: 46628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10070
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.377e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

VQSLOD
type: SiteQuality
SIO_000300: -7.905e-1

FS
type: SiteQuality
SIO_000300: 3.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

DP
type: SiteQuality
SIO_000300: 7.75298e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.27e-2

MQ
type: SiteQuality
SIO_000300: 5.609e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.26e0

QD
type: SiteQuality
SIO_000300: 1.753e1

GenotypeDepth
all individuals: 5490
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4125
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2126
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7493
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3828
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3804
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29055
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 3862
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2058
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16000
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.81170089112747e-4
allele num: 10324
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729804532087874e-4
allele num: 11562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.519705917801615e-5
allele num: 66376
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.26e0

QD
type: SiteQuality
SIO_000300: 1.296e1

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.02e-1

DP
type: SiteQuality
SIO_000300: 2.6582e6

FS
type: SiteQuality
SIO_000300: 1.668e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e-1

GenotypeDepth
all individuals: 4219
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2076
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8125
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3873
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29051
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 360
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
all individuals: 292
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variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4206
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3833
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3809
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16112
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505978735580254e-5
allele num: 66402
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

QD
type: SiteQuality
SIO_000300: 1.329e1

FS
type: SiteQuality
SIO_000300: 3.468e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e0

DP
type: SiteQuality
SIO_000300: 2.660457e6

GenotypeDepth
all individuals: 459
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 388
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29056
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9678
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3824
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3889
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2090
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3836
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4315
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504392827055001e-5
allele num: 66472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16232
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

QD
type: SiteQuality
SIO_000300: 1.288e1

FS
type: SiteQuality
SIO_000300: 1.467e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.845e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.674789e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.24e-1

GenotypeDepth
all individuals: 997
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9841
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3824
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3889
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2094
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4316
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3838
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29054
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66482
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.153088850603002e-5
allele num: 16252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

DP
type: SiteQuality
SIO_000300: 2.676607e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.052e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.3e-1

QD
type: SiteQuality
SIO_000300: 1.075e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 627
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2093
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2131
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3893
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 3836
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29055
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4325
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9913
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3829
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007971123477215e-5
allele num: 66490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16256
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.426e1

DP
type: SiteQuality
SIO_000300: 2.67722e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.855e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

MQRankSum
type: SiteQuality
SIO_000300: 7.95e-1

FS
type: SiteQuality
SIO_000300: 8.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.37e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeDepth
all individuals: 5490
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9978
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4331
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29055
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3888
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3834
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3836
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2096
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16266
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66496
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.677983e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.25e-1

QD
type: SiteQuality
SIO_000300: 1.395e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.94e0

GenotypeDepth
all individuals: 2234
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4331
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3836
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3834
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3888
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.007699711260828e-5
allele num: 66496
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.654373431164318e-5
allele num: 10358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.25e-1

BaseQRankSum
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SIO_000300: -4.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 2.677983e6

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.395e1

VQSLOD
type: SiteQuality
SIO_000300: 5.71e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeDepth
all individuals: 7857
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504030802550836e-5
allele num: 66488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.19e-1

BaseQRankSum
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SIO_000300: -6.067e0

FS
type: SiteQuality
SIO_000300: 2.156e0

DP
type: SiteQuality
SIO_000300: 2.681174e6

ClippingRankSum
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SIO_000300: -5.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.81e-1

QD
type: SiteQuality
SIO_000300: 1.564e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3837
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.856536829926726e-4
allele num: 10372
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.510193036261952e-5
allele num: 66516
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
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SIO_000300: 5.976e1

MQRankSum
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SIO_000300: -4.97e-1

VQSLOD
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SIO_000300: 1.86e0

ReadPosRankSum
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SIO_000300: 2.4e-1

DP
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SIO_000300: 2.683294e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.62e-1

BaseQRankSum
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SIO_000300: 4.14e0

QD
type: SiteQuality
SIO_000300: 1.399e1

FS
type: SiteQuality
SIO_000300: 1.687e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4415
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variant carriers: 0

GenotypeQuality
all individuals: 10816
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50195253829979e-5
allele num: 66580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

VQSLOD
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SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 2.65e-1

QD
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SIO_000300: 1.434e1

ClippingRankSum
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SIO_000300: -7.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

DP
type: SiteQuality
SIO_000300: 2.68984e6

GenotypeDepth
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501681883709755e-5
allele num: 66592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
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SIO_000300: 5.94e0

FS
type: SiteQuality
SIO_000300: 5.069e0

InbreedingCoeff
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DP
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VQSLOD
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QD
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ClippingRankSum
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SIO_000300: -1.028e0

MQRankSum
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SIO_000300: -6.31e-1

MQ
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SIO_000300: 5.962e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501636784094663e-5
allele num: 66594
num of homozygotes: 0

InbreedingCoeff
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MQRankSum
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QD
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ClippingRankSum
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MQ
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VQSLOD
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FS
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DP
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: 7.71e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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South Asian
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allele frequency: 6.076810889645114e-5
allele num: 16456
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East Asian
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ReadPosRankSum
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QD
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ClippingRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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FS
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MQ
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 6

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 34

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

East Asian
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allele count: 6
allele frequency: 6.933210076265311e-4
allele num: 8654
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.071666162685213e-4
allele num: 6614
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

Other
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allele count: 2
allele frequency: 2.217294900221729e-3
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
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allele count: 20
allele frequency: 3.001741009785676e-4
allele num: 66628
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 4.51e-2

MQRankSum
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SIO_000300: 1.9e-1

VQSLOD
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BaseQRankSum
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SIO_000300: 2.34e0

ReadPosRankSum
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SIO_000300: 7.01e-1

FS
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SIO_000300: 0.0e0

MQ
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SIO_000300: 5.966e1

DP
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QD
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SIO_000300: 1.317e1

ClippingRankSum
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SIO_000300: -4.8e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 10

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

African
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allele count: 10
allele frequency: 9.626492106276473e-4
allele num: 10388
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.01e-1

InbreedingCoeff
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SIO_000300: 4.51e-2

MQ
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SIO_000300: 5.966e1

DP
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SIO_000300: 2.696581e6

VQSLOD
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SIO_000300: 5.91e0

MQRankSum
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SIO_000300: 1.9e-1

BaseQRankSum
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SIO_000300: 2.34e0

FS
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-1

QD
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SIO_000300: 1.317e1

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2119
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001380635092142e-5
allele num: 66636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
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SIO_000300: 1.245e1

MQRankSum
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SIO_000300: -1.6e-1

DP
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SIO_000300: 2.693143e6

BaseQRankSum
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SIO_000300: 7.99e-1

VQSLOD
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SIO_000300: 9.66e-1

ClippingRankSum
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SIO_000300: -2.3e-2

FS
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SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4455
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -3.115e0

FS
type: SiteQuality
SIO_000300: 6.138e0

ClippingRankSum
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SIO_000300: -1.656e0

MQ
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SIO_000300: 5.979e1

MQRankSum
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SIO_000300: -1.036e0

QD
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SIO_000300: 9.359999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: -2.52e-1

DP
type: SiteQuality
SIO_000300: 2.693334e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 66
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

ClippingRankSum
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SIO_000300: 2.2e-1

ReadPosRankSum
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MQRankSum
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FS
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MQ
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SIO_000300: 6.0e1

DP
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VQSLOD
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SIO_000300: 2.7e-2

QD
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InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -4.617e0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.42e0

DP
type: SiteQuality
SIO_000300: 2.694247e6

VQSLOD
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SIO_000300: 8.76e-1

MQRankSum
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SIO_000300: 1.89e-1

ReadPosRankSum
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SIO_000300: 3.38e-1

MQ
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InbreedingCoeff
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SIO_000300: -1.0e-4

QD
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ClippingRankSum
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BaseQRankSum
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SIO_000300: -5.175e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.497616263380409e-5
allele num: 66702
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.923076923076923e-4
allele num: 10400
num of homozygotes: 0

Other
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allele count: 0
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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VQSLOD
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ReadPosRankSum
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QD
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BaseQRankSum
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MQ
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SIO_000300: 5.973e1

FS
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

Latino
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Other
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East Asian
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ClippingRankSum
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InbreedingCoeff
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QD
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MQ
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BaseQRankSum
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MQRankSum
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VQSLOD
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FS
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

Other
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East Asian
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South Asian
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Latino
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African
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European (Finnish)
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MQ
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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DP
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BaseQRankSum
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 1.92270717169775e-4
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

Latino
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East Asian
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South Asian
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European (Finnish)
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Other
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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MQ
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FS
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QD
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

Other
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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Latino
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European (Non-Finnish)
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allele count: 1
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allele num: 66734
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ReadPosRankSum
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VQSLOD
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QD
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MQRankSum
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InbreedingCoeff
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DP
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MQ
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FS
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 2.996973057212216e-5
allele num: 66734
num of homozygotes: 0

African
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East Asian
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Latino
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European (Finnish)
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Other
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South Asian
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MQRankSum
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FS
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QD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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VQSLOD
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ReadPosRankSum
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MQ
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66734
num of homozygotes: 0

African
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Other
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South Asian
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East Asian
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European (Finnish)
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Latino
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ClippingRankSum
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MQRankSum
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MQ
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QD
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DP
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.048940570024275e-4
allele num: 66734
num of homozygotes: 0

East Asian
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European (Finnish)
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Latino
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African
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Other
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South Asian
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FS
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DP
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InbreedingCoeff
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ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.211e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.014e0

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 9.27e-1

GenotypeDepth
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 7.25e1
variant carriers: 0

GenotypeDepth
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bin: 6.75e1
variant carriers: 0

GenotypeDepth
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4466
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3899
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495459585818323e-5
allele num: 66734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.82e0

QD
type: SiteQuality
SIO_000300: 1.145e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.159999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.69528e6

GenotypeDepth
all individuals: 7828
bin: 3.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 7.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3899
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996973057212216e-5
allele num: 66734
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-3

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 3.82e0

QD
type: SiteQuality
SIO_000300: 1.145e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.69528e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.159999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-2

GenotypeDepth
all individuals: 624
bin: 8.25e1
variant carriers: 0

GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4448
bin: 2.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 7859
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3899
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3845
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.188e1

MQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

DP
type: SiteQuality
SIO_000300: 2.694288e6

FS
type: SiteQuality
SIO_000300: 5.391e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.69e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e-1

GenotypeDepth
all individuals: 6379
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 685
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variant carriers: 2

GenotypeDepth
all individuals: 4217
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variant carriers: 0

GenotypeDepth
all individuals: 8050
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variant carriers: 0

GenotypeDepth
all individuals: 620
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variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.36e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.78e-2

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

ClippingRankSum
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SIO_000300: -9.3e-2

DP
type: SiteQuality
SIO_000300: 2.706878e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 5.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-1

GenotypeDepth
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bin: 4.25e1
variant carriers: 2

GenotypeDepth
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bin: 7.25e1
variant carriers: 2

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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bin: 6.25e1
variant carriers: 3

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 127

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 116
allele frequency: 1.738296469459929e-3
allele num: 66732
num of homozygotes: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Finnish)
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allele count: 13
allele frequency: 1.965527668581796e-3
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.36e-1

MQ
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SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-2

MQRankSum
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FS
type: SiteQuality
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QD
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InbreedingCoeff
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SIO_000300: 2.78e-2

VQSLOD
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ReadPosRankSum
type: SiteQuality
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DP
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SIO_000300: 2.706878e6

GenotypeDepth
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bin: 1.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 28983
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.3017e1

VQSLOD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.985e1

ClippingRankSum
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SIO_000300: 2.2e0

QD
type: SiteQuality
SIO_000300: 1.135e1

DP
type: SiteQuality
SIO_000300: 2.691647e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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South Asian
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European (Non-Finnish)
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African
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QD
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FS
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DP
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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South Asian
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European (Non-Finnish)
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African
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East Asian
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DP
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QD
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MQ
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ReadPosRankSum
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FS
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MQRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Latino
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East Asian
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South Asian
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BaseQRankSum
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ClippingRankSum
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FS
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MQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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European (Non-Finnish)
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African
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Latino
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BaseQRankSum
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FS
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ClippingRankSum
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VQSLOD
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MQ
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MQRankSum
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DP
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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FS
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VQSLOD
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MQ
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DP
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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MQRankSum
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FS
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MQ
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DP
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GenotypeQuality
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FS
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VQSLOD
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DP
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InbreedingCoeff
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GenotypeQuality
all individuals: 28973
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 4474
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3861
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11338
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3847
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3902
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2120
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 13
allele frequency: 1.25e-3
allele num: 10400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.691582e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

QD
type: SiteQuality
SIO_000300: 1.363e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeDepth
all individuals: 5502
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1446
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7877
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28964
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2139
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2120
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3905
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11339
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4474
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3864
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3847
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.993075331994364e-5
allele num: 66718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.675e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 6.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.261e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.65e-1

DP
type: SiteQuality
SIO_000300: 2.690514e6

MQ
type: SiteQuality
SIO_000300: 5.958e1